Canonical Allele Identifier: CA2271700362

Gene: PSMD12

Linked Data

• dbSNP Id: rs2042004647
• gnomAD v4: 17-67350215-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350215A>C , CM000679.2:g.67350215A>C	GRCh38
NC_000017.10:g.65346331A>C , CM000679.1:g.65346331A>C	GRCh37
NC_000017.9:g.62776793A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.405+14T>G MANE Select	ENSP00000348442.3:n.405+14T>G
ENST00000356126.7:c.405+14T>G	ENSP00000348442.3:n.405+14T>G
ENST00000357146.4:c.345+14T>G	ENSP00000349667.4:n.345+14T>G
ENST00000584008.5:c.*560+14T>G	ENSP00000462525.1:n.*560+14T>G
ENST00000584289.5:n.454+14T>G
NM_001316341.1:c.228+14T>G	NP_001303270.1:n.228+14T>G
NM_002816.3:c.405+14T>G	NP_002807.1:n.405+14T>G
NM_002816.4:c.405+14T>G	NP_002807.1:n.405+14T>G
NM_174871.2:c.345+14T>G	NP_777360.1:n.345+14T>G
NM_174871.3:c.345+14T>G	NP_777360.1:n.345+14T>G
XM_011525048.1:c.228+14T>G	XP_011523350.1:n.228+14T>G
XM_011525049.1:c.228+14T>G	XP_011523351.1:n.228+14T>G
XM_011525050.1:c.405+14T>G	XP_011523352.1:n.405+14T>G
XM_024450842.1:c.492+14T>G	XP_024306610.1:n.492+14T>G
XM_024450843.1:c.228+14T>G	XP_024306611.1:n.228+14T>G
XR_001752571.2:n.484+14T>G
NM_002816.5:c.405+14T>G MANE Select	NP_002807.1:n.405+14T>G
NM_001316341.2:c.228+14T>G	NP_001303270.1:n.228+14T>G
NM_174871.4:c.345+14T>G	NP_777360.1:n.345+14T>G